ArticleScientific reports2019
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
Erratum issuedOpen access · goldAbstract read
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Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers, 3 of them syntheses that pooled it.
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52citing papers in PubMed, 3 pooled it
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Who cites it
52 citing papers in PubMed, 3 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Assessing the lack of diversity in genetics research across neurodegenerative diseases: A systematic review of the GWAS Catalog and literature.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Pooled it
- Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.Brain : a journal of neurology · 2023Pooled it
- Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- TMEM106B is a selective modulator of TDP-43 pathology in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Understanding the genetic imperfections of Lewy body dementia.Molecular neurodegeneration · 2026Review
- A genome-wide association study of young onset Parkinson's disease in European ancestry.medRxiv : the preprint server for health sciences · 2026Article
- Regional gene expression and brain atrophy in dementia with Lewy bodies: an imaging transcriptomics study.NPJ Parkinson's disease · 2026Article
- Neuropathology of Lewy body dementia: Lewy-related pathology, α-synuclein oligomers, and comorbid pathologies.Molecular neurodegeneration · 2025Review
- Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.Alzheimer's research & therapy · 2025Article
- Expanding our understanding of synucleinopathies: proteinopathy, proteinopenia, and lipidopathy.The FEBS journal · 2025Review
- Lewy body dementia: exploring biomarkers and pathogenic interactions of amyloid β, tau, and α-synuclein.Molecular neurodegeneration · 2025Review
- Comorbid Pathologies and Their Impact on Dementia with Lewy Bodies-Current View.International journal of molecular sciences · 2025Review
- The role ofFrontiers in neuroscience · 2025Review
- Epigenetic Modifiers: Exploring the Roles of Histone Methyltransferases and Demethylases in Cancer and Neurodegeneration.Biology · 2024Review
- Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Machine learning quantification of Amyloid-β deposits in the temporal lobe of 131 brain bank cases.Acta neuropathologica communications · 2024Article
- GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- [Dementia with Lewy bodies: old and new knowledge - Part 1: clinical aspects and diagnostics].Der Nervenarzt · 2024Review
- Involvement of ApoE4 in dementia with Lewy bodies in the prodromal and demented stages: evaluation of the Strasbourg cohort.GeroScience · 2024Article
- Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
40 authors at 16 institutions in 9 countries.
Arvid RongveHaugesund Hospital, Helse Fonna, Department of Research and Innovation, Haugesund, Norway. arvid.rongve@helse-fonna.no.ORCID http://orcid.org/0000-0002-0476-4134
Aree WitoelarNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Agustín RuizMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Lavinia AthanasiuNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Carla AbdelnourMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Jordi ClarimonDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Isabel HernándezMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Sonia Moreno-GrauMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Itziar de RojasMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Estrella Morenas-RodríguezDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Tormod FladbyDepartment of Neurology, Akershus University Hospital, Lørenskog, Norway.
Sigrid B SandoDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
Geir BråthenDepartment of Neurology, St Olav's Hospital, Trondheim, Norway.ORCID http://orcid.org/0000-0003-3224-7983
Frédéric BlancUniversity Hospital of Strasbourg, CMRR (Memory Resources and Research Centre), Geriatrics Department, Strasbourg, France.
Olivier BousigesUniversity Hospital of Strasbourg, CMRR (Memory Resources and Research Centre), Laboratory of Biochemistry and Molecular Biology, Strasbourg, France.
Afina W LemstraUniversity of Strasbourg and CNRS, Laboratoire de Neurosciences Cognitives et Adaptatives (LNCA), UMR7364, 67000, Strasbourg, France.
Inger van SteenovenUniversity of Strasbourg and CNRS, Laboratoire de Neurosciences Cognitives et Adaptatives (LNCA), UMR7364, 67000, Strasbourg, France.
Elisabet LondosLund University, Skane University Hospital, Institute of Clinical Sciences, Malmö, Sweden.
Ina S AlmdahlUniversity of Oslo, AHUS Campus, Oslo, Norway.ORCID http://orcid.org/0000-0001-6070-4921
Lene PålhaugenDepartment of Neurology, Akershus University Hospital, Lørenskog, Norway.
Jon A EriksenNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Srdjan DjurovicDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-8140-8061
Eystein StordalDepartment of Psychiatry, Namsos Hospital, Namsos, Norway.ORCID http://orcid.org/0000-0002-2443-7923
Ingvild SaltvedtDepartment of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.
Ingun D UlsteinInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.
Francesco BettellaNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-7968-8642
Rahul S DesikanDepartments of Radiology and Biomedical Imaging, Neurology and Pediatrics, UCSF, San Francisco, USA.
Ane-Victoria IdlandOslo Delirium Research Group, Department of Geriatric Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Mathias ToftInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-6723-6865
Lasse PihlstrømDepartment of Neurology, Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-7635-8645
Jon SnaedalLandspitali University Hospital, Reykjavik, Iceland.
Lluís TárragaMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Mercè BoadaMemory Clinic and Research Center of Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain.
Alberto LleóDepartment of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Hreinn StefánssonDeCODE genetics, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9331-6666
Kári StefánssonDeCODE genetics, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-1676-864X
Alfredo RamírezDivision for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, 50924, Cologne, Germany.ORCID http://orcid.org/0000-0003-4991-763X
Dag AarslandInstitute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. daarsland@gmail.com.
Ole A AndreassenNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. ole.andreassen@medisin.uio.no.
Oslo University Hospital · NOFundació ACE · ESCentre National de la Recherche Scientifique · FRNorwegian University of Science and Technology · NOUniversitat Autònoma de Barcelona · ESUniversity of Oslo · NOdeCODE Genetics (Iceland) · ISKing's College London · GBLund University · SEPrivatsykehuset Haugesund · NOReykjavík University · ISSt Olav's University Hospital · NOUniversité de Strasbourg · FRUniversity of Bonn · DEUniversity of California, San Francisco · USUniversity of Cologne · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide association study in Norwegian and European cohorts of 720 DLB cases and 6490 controls and included 19 top-associated single-nucleotide polymorphisms in an additional cohort of 108 DLB cases and 75545 controls from Iceland. Overall the study included 828 DLB cases and 82035 controls. Variants in the ASH1L/GBA (Chr1q22) and APOE ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 × 10
Indexed as
Polymorphism, Single NucleotideApolipoproteins ECase-Control StudiesEuropeGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGlucosylceramidaseHumansIcelandLewy Body DiseaseNorwayNuclear ProteinsTranscription FactorsApoE protein, humanApolipoproteins EGBA protein, humanGlucosylceramidaseNuclear ProteinsTranscription FactorsZFPM1 protein, human
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